50,000 Shades of Grey

2017 editor’s note: I wrote this post in early 2016 a year before the new EDS nosology and diagnostic criteria were presented in March 2017, so some of the diagnostic information below is now outdated. E.g. the Brighton (with an “r” to be clear) Diagnostic Criteria are now obsolete, but the Beighton 9 pt scale remained as described here.

But I feel the main point of the post still stands and is relevant, so I’m keeping it with this caveat at the top to take it with a grain (or 30) of salt (preferably sea salt), and focus on the gist of it, vs getting hung up on the incorrect details. Thanks!

Original post as written in January 2016:

Sorry to disappoint you erotica fans, but this post is not going to be nearly as sexy as the recently viral romance novel whose title it is reminiscent of. But I hope having lured you in, it will keep your attention just the same, as this is a topic I’m feeling very strongly about.

I’m expecting to catch heat from multiple sides for this post, as I’ll likely rattle a few cages in the process, but c’est la vie. I can’t sit on this view any longer.

That is, the difficulty I find in both doctors and fellow (suspect and diagnosed) EDS patients alike to prematurely leap to conclusions, stick to them once drawn, and strive to classify the snot out of any and everything into tiny little black and white boxes that preclude having multiple conditions, factors or issues. (I call this sticky thinking, or “velcro brain” now. And yes, I’ve been guilty of same in the past too. I strongly suspect mild ADD and OCD to lend to this proclivity in us but that’s just my personal hunch yet obviously.)

E.g., upon learning you have Rheumatoid Arthritis or Lupus for instance, promptly ascribing any and all tissue pain and issues to that disease, and failing to see the comorbid hypermobile forest for the arthritic trees. (We find autoimmune diseases highly comorbid in the Ehlers-Danlos community.)

Or getting diagnosed with Fibromyalgia and refusing to see how every single symptom and manifestation of itfalls within the EDS circle of experience – every one. Including the familial inheritance pattern and your flying bird hands you wave at me in firm denial while your veins visibly pop and you squint your eyes at me through your myopic lenses while insisting you just have fibro! (The above are all signs of hypermobility in case that wasn’t clear.)

Yet you will refuse to consider the possibility you might have a so-called “rare” (!) genetic connective tissue disease even after I run a Brighton Critiera. [Editor’s note 2017: yes, I know the EDS are now all considered rare again per the new nosology and criteria, this was written before that came out in March 2017 when I still considered hEDS not so rare as per the Brighton Criteria. I now suspect most with fibro of likely having a form of the newly recognized in 2017 Hypermobility Spectrum Disorders, sort of “sub-clinical” EDS if you will per the new noslogy.]

No, you are special, you have the hard-won (being clinical, and thus purely subjective) diagnosis of the still poorly defined (and ever -expanding diagnosis of) fibromyalgia after way too many years of suffering and pain so you will not let go of it for love nor money! (Yes, I’ll still allow for a small handful to have “just fibro” but I would dearly love to know the cause that isn’t included in the Chronic Constellation when you find it.)

I can’t say that I blame you, any of you. After all, you’ve fought hard for the diagnosis you do have (or give, if you’re a doctor). And you’ve only been told about the grossest signs (extreme flexibility aka hypermobility, frank dislocations, and extremely stretchy skin or vessel ruptures) of the rarest typesof Ehlers-Danlos. And been told that it’s really rare. (The Hypermobile form is very likely not. Leading experts now cite as high as 2% of the general population may have it, since 2012.) And that you’ll be in a wheelchair if you do have it, like I was in 2012. (Hey, I’m back out for the record! Sure, I still limp, but I’m on foot again, watch out!)

But when I point out the less famous signs and run the Brighton Diagnostic Criteria backwards you still resist saying “everyone does that!” Of course you do: you’re surrounded by people just like yourself both in your biological family, and your circle of like-minded friends (birds of a feather). (We’re finding we’re highly attracted to each other both platonically and romantically, and most who are clinical enough to get diagnosed end up seeing it in both sides of their family.) And yes, this includes many doctors and nurses who I increasingly suspect also.

I feel strongly these myriad extra-articular (meaning non-joint-related) health factors and issues may well underlie why Hypermobile type Ehlers-Danlos Syndrome is so rarely diagnosed IMHO. I feel it expresses and falls much more on a continuum or “spectrum” if you will, much like the extremely commonly comorbid high functioning autism spectrum I increasingly find it also comes with.

In fact, I’m semi-convinced now that “high functioning” or mild autism (and the related sub-clinical alphabet soup (as I call it) which many also exhibit of variations of ADD/ADHD, OCD, SPD and more) is merely a symptom of the underlying altered neurology I think we’ll find common in HEDS patients one day. (They need to autopsy or image a flock of us to prove this still, but Temple Grandin‘s brain scans already hint at our saggy hind brains. Squished occipital lobes aka Chiari anyone?) I think whatever drives hypermobility also drives or lends to neuroplasticity and thus highly variable neurodiversity. (And don’t get me started on the DSM~!) But I digress.

The problem is our very binary, aka black and white, either-or, all or nothing mindsets: either you have a genetic SNP (defect) or you don’t. No other possibility. No partially having it, or having it mildly. Or having it plus anything else a la Hickam’s Dictum.

Just what would you say I had for the first 44 years of my life prior to my long-awaited diagnosis of Hypermobile EDS pray tell?? I most certainly did not “catch” HEDS at 45! It’s not contagious, like the Zika virus (thank God). I’ve had it since I was a zygote. But no one noticed the milder telltale signs as I was growing up:

I could go on. My point being, my condition worsened as I aged, until it finally suddenly became “clinical” enough to hit a doctor’s radar. My late father’s and paternal aunt’s health all snapped into focus suddenly once I finally suspected the condition. And then later my late mother’s health also snapped into focus (full dentures, varicose veins, phlebitis, thin skin that tore at a glance, easy bruising and bleeding, headaches, bad back, depression and anxiety, miscarriages and much more).

Apparently I pulled the short straw, and got a double dose from both sides of my family (mom AND dad). Yes, my older sister (only sibling) does also show plenty of signs (even passes the Brighton Diagnostic Criteria IMHO though she won’t let me run it on her yet). But I guarantee no un-savvy doctor would ever suspect my sister. Not based on the current literature and information!

And I wouldn’t blame them. She’s a highly functional full-time engineer after all who rarely to never misses a day of work, just like my late dad was. (And equally stubborn, TYVM.)

So not only can you have variability in the number of alleles (copies of your genes affected, e.g. single vs double), but you can have plenty of other environmental factors that may contribute to your level of severity. Especially if the RCCX Theory proves to lie behind the most common Hypermobile form, the level of stress in the home and your life will cause great variability in severity and age of onset. (And very nicely explains my level of severity along with a progesterone storm on top, thank you very much.) Oh yeah, progesterone makes you more lax by the way. Notice any trouble during your cycles ladies? Peri-menopause? Oh yeah. We get all the fun.

I was also the child of older parents (they were 40 when I hatched), who smoked and drank while conceiving and pregnant with me, and were starting to fight (live dysfunctional alcoholic lives) when I was growing up. (I’ve already mentioned my likely CPTSD in this post about Anxiety and EDS.) So I already had a couple strikes against my health when I was conceived as well as developing. (I suffered some benign neglect along the way my sister can vouch for.)

I also feel strongly a la Hickam’s Dictum that it’s not impossible to have multiple SNPs (genetic defects) or even a mashup of types or SNPs on multiple genes in the same patient that still lend to our issues, even if not all are directly disease causing. I.e, this is some (very B&W thinking) geneticists think you can only have one type that runs “true” in the family. Based on 4 plus years of observation of several thousands of patients and their families in my online support groups, I humbly beg to differ.

The level of variability and crossover of symptoms and types is almost unlimited. (And almost everyone has mild or more signs of Vascular type EDS and thus wonders if they have it. By all means rule it out by testing if you suspect it! We ruled out IV and VI in me based on family and personal medical history and presentation.)

Sure, a handful will appear to “run true” and be easily identified with a familial Mendelian inheritance pattern (usually autosomal dominant), but not all. I’m also pretty sure these are the exceptions (truly rare patients), not the rule. And perhaps you may just be a “carrier” for a rare type, even if it’s not fully expressed in you. (Much like how Dr. Meglathery suspects many of us may be carriers of CAH, even if we don’t have CAH directly in her RCCX Theory. She calls this “CAH1”.)

And never mind the effect of epigenetics in all of this! (Not all genes are expressing all the time, or not fully, etc.) It’s really much more of a spectrum to me than a clear black and white, all or nothing disease any more. (So many variables, so little time.)

Toss in myriad genetic variations in your methylation cycles all of which I’m sure can contribute to our overall well-being and variable ability to detox among other things, as well as variable diets and environments, and it’s a wonder they even thought it was genetic to begin with! (It’s looking less so the deeper I dig, or at least, less mono-genic anyway.)

[Aside: no, I do not fully agree with Debby McQueen that MTHFR “causes” Hypermobile type EDS, but… I DO agree it may well amplify or lend to it for the reasons she delineates and that treating any MTHFR defects may well help as she found with her family. I say this because MTHFR is known to run in at least 40% or more of the general population. And so technically if it did “cause” HEDS, then 40% of the population would have signs of hypermobility – and even I don’t think it runs quite that high! (I’m willing to bet dark chocolate it’s at least 10% and maybe as high as 20% currently, but not much more – yet.)

Also, the collection of Mast Cell Activation Diseases is collectively known as MCAD, not Mastocytosis aka “masto” as she states, and which is just one of many forms of MCAD. Not trying to pick on her, just trying to clarify correct information and keep us all discerning. I do like her thinking, and am impressed with her findings and results. /End aside.]

Once again it’s late, and I’m tired, and so I’m going to leave this here for now. I may well modify this post later as I think of more juicy reasons I find EDS so highly variable in both presentation and onset, leaving it so poorly recognized still due to being mis-characterized as “a genetic collagen defect” (or even “collection of genetic collagen defects”) lending to the black and white all or nothing thinking in the medical world about it. (Just because your doctor leaps off an information cliff like a lemming, does that mean you should too?)

I’m increasingly convinced it’s likely a huge collection of collagen, Tenascin-X and other connective tissue defects with several potential amplifiers (epigenetics and methylation being the two biggies), not all of which are equally expressing. We’ve all just been seduced by the early findings from the low-hanging diagnostic fruit found to date.

Again, I eagerly await what the working groups come up with since the International Symposium met last May 2016. But I’m willing to sit on my hands and cut them some slack in light of what I just opined above – this is an extremely large “animal” they’re trying to get their arms around, and I’m pretty sure it’s a steadily moving target as science continues to catch up and uncover more types and variable features.

I understand the hesitation to include the seemingly benign albeit grossly bendy patient (like I was as a child) who is able to run around and dance and perform like some on America’s Got Talent etc. But I’m willing to bet they either have or are related to someone who has some form of EDS at the very least! And you shouldn’t have to wait 25 years from first major complaint and become wheelchair bound to suspect it. (And no, blessedly many will never have any major problems – but gee, wouldn’t it be nice to know so you can prevent any major injuries by avoiding things like roller coasters and high velocity neck thrusts at the chiropractor’s?)

All I ask is for everyone to be more dialectic in their thinking – that is, feel free to hold an opinion, but allow for other possibilities as you proceed. That is, don’t stick like glue to the first or only thing you’ve seen about the disease to date, where ever that may have been (medical school, the internet, or an outdated text book). Take it as a starting point or guideline, but listen to the patients who are living with the disease!

I dearly wish I could download all I’ve got stored in my brain after reading thousands of posts from thousands of patients for the last five years as I fell down this rabbit-hole to everyone reading. (One of my groups alone has over 12,000 patients in it now, and I’m in about 20 groups. Subtracting for overlap, I’d conservatively guess I’m seeing at least 15,000 distinct patients total across the collection all complaining of their issues – sometimes more than they do to their own doctors! And I have a semi-photographic memory, whee.)

Yes, I’m working on my book to that end, just struggling to describe this very large animal I’ve alluded to so far while lacking scientific backup for much of it. But I’m getting there. (Nearing the half-way mark as we type, finally, thankfully, ahhh… splat.)

But hopefully, at the very least, it’ll change a few mindsets to be a bit more nuanced and allow more ‘Shades of Grey’ than we’ve seen to date. I hope you’ll join me in thinking outside of the black and white boxes we’ve been pigeon-holing everyone in to date. Feel free to return to those exciting romance novels, but I defy you not to think about hypermobility now as you read them, smile.

16 Responses to 50,000 Shades of Grey

Jandroid, Not able to sleep tonight so came to gather more information that the lack there of is keeping me awake. Read this what you wrote and it further convinces me the need for an EDS evaluation amongst other things. I for SURE have some form of MCAD and am trying to deal with it with physicians who are not experienced enough until I can get to a mast cell reseacher’s appointment. This is a nightmare, that is all I can say about that. I have read many of your blogs and appreciate you taking the time out of your life and using your talents/gifts of writing and sharing with us all. I don’t know what I would do without those sharing of themselves on the internet. Peer patient communication is VITAL I have discovered and I hope myself to become part of the support in due time. I completely agree with what you wrote here and personally have gone over in my head all the past diagnoses I have received which I believe were in error. Still do not have my full diagnosis in hand and am even further from treatment. It is a sad state of affairs to be in but there is HOPE. There are others out there like yourself, willing to lend a hand and my hope is that there is some form of therapy for you in the helping. God bless you Oh Twist…

Sorry you are sleepless again tonight (boy do I remember that drill!) but glad I could be a small beacon of light and hope in the desert of medical info out there for you. PLEASE keep the faith, trust – and heal – your gut, and just keep playing gently but persistently squeaky wheel. If one doctor digs their heels in and refuses to budge, do whatever you can to find another who “gets it”. They are out there, and word is every so slowly (infinitesimally as it may seem) spreading among the medical field. (No, it’s not fair we have to suffer so much PLUS become medical educators, sheesh, but we do.) The results of the Symposium will only help once they come out, as will the ICD-10 code for MCAS in the US once it is out this fall.

I’m beyond convinced I was given my gifts of memory and ability to write in order to help raise awareness for this “Chronic Constellation”. Also, your prior diganoses may not all have been “wrong” at the time – they were the best we knew to recognize at the time. And no doctor could be privvy to all the patient complaints I’ve been for the last five years without also being in the large support groups with me like Dr. Sharon Meglathery has, as well as experiencing the condition first hand. Together we’ll slowly bring the medical world with us.

We are just waking up slowly to the new reality, with a higher level overview thanks to the internet helping more of us connect more dots. Hang in there! I hope you got some sleep eventually. (Vital!)

WOW! Thanks for that personal response. I feel honored and privileged to of received it. I actually believe I am well on my way with having found an allergist who was highly recommended to me and within reach. He actually comes 35 miles away from me once every 6 weeks! I also found a geneticist in my state who I have an appointment with in February of 2017. I believe you were created for doing this as well as I believe I was too for whatever my part may be. Perhaps to find for others the doctors in my area and the resources. Not to mention for my family. We can either sulk and be upset about the state of our affairs or we can get up and go and be a part of the solution. I am hoping I will be the latter as opposed to the former to whatever degree the good Lord will see fit to allow me. Thanks again for who you are and for what you do. Doors have been opened due to what you are afflicted with and will continue to open as you walk forward in His grace and calling for your life. God bless.

Aw thank you – you just made me cry! I totally agree we were put here with this condition for a reason (beyond just suffering) – it’s just not always obvious at first. (Boy was that true for my first 44 years of my life.) I can’t agree with this statement of yours more:

“We can either sulk and be upset about the state of our affairs or we can get up and go and be a part of the solution.”

Way to make lemonade out of your lemons with me, and light the way for others. BTW, if you’re not already aware, this organization was designed to help people find and/or even start local support groups in the US. Great people, they also offer lots of educational webinars online for free, so there’s something for the rest of us who can’t make it to the conference every year (or ever):

That said, way to self-advocate. You ARE helping others in your area just by bringing doctors to the area for your care. EDS is not rare, it’s rarely diagnosed (or at least they Hypermobile form as we currently know it isn’t rare IMHO), so keep “squeaking”, and we’ll eventually overcome the currently prevailing misinformation, one doctor at a time! (Feel free to share my blog with them too – it’s designed to help inform both doctors and patients, so we can all get on the same page of the same hymnal sooner.) Rock on.

I wasn’t aware of the purpose of the organization. Believing now being drawn to your writings was by a Divine design. I have had thoughts of starting SOME kind of support group for soooooo long. Jan know I don’t even KNOW if I even have EDS at this point am only sure about having a mast cell disorder of some kind. I have discussed the possibility of my having EDS and had to share this with my primary care doctor so I could get a referral to the geneticist in my state. Trust me when I say that I had to FIGHT for that referral. He argued and argued with me that I didn’t have the “look” of someone with EDS and I also was not double jointed. I still cannot believe I got out of there with referral in hand. The main reason I am suspecting I could even possibly or remotely have this is due to knowing I have comorbidities of it and also that so many have told me I ought to go in to be evaluated. Saying all of this to say that I got a ways to go. Right now am dealing with reactions to so many things that I have fear of going into anaphylaxis. I believe I came very close to this over the weekend. I am so thankful to the Lord for the information that has been presented online as well as the support groups on facebook. I don’t know where I would be otherwise.
You said a mouthful when you said ” You ARE helping others in your area just by bringing doctors to the area for your care.” I have been believing the Lord is using me to get things set up for care and to also bring an awareness to this area. That I will be used to help others. It is my hope and prayer. I FIRST need to get care personally and find out for sure what is all wrong with me. I don’t even have a team of doctors at this point and time.
I want to start a blog about this too. Writing is such a wonderful outlet and helps so many people.
I suspect there are many books that will be coming out and I believe one that you would write would be a very good one and maybe you have more then one book inside of you, who knows??? Only God.
Thanks Jan for being part of the solution and not part of the problem. That is my goal as well.
*SMILES*
Jean

Aw, so glad you found me/us/this info. Please trust – and heal – your gut. if you suspect EDS this strongly, and so much of my blog info resonates with you, you probably have it. You’re just facing the daunting uphill battle of misinformation out there I’m so sorry. (Why I’m writing.) Keep the faith and keep trying. But meanwhile, work on quieting those mast cells if you can, so you keep your strength and nutrition up to fight another day. (MCAS can be so draining.) See http://tmsforacure.org for support on that.

Defo get in touch with John Ferman at EDS Awareness (same site as Chronic Pain Partners above – he intended CPP to be the “umbrealla’ org to include more than just EDS, but hasn’t made that clear really). He’s super nice and supportive and will gladly help you get a support group going or find any in your area. I think you could and should even if you’re not diagnosed – you might find some who are, as well as many more suspecting and together you’ll all be stronger for it. (Most groups would be really small if they only included officially diagnosed people – it took me 25 years to get diagnosed after all, but I didn’t suspect EDS until the last 5 thankfully.)

The journey of a thousand miles begins with a single step. Gird your loins, stay strong and take that first step. I’ve got your back with good info. (Feel free to refer doctors here too, it’s designed with them in mind.) Hugs, your fan, Jan in Portland PS Yes, I feel a couple more books “kicking” in side me, lol. Who knew.

Hi Jean I’m curious as to how things have developed for you since posting the above last summer, particularly because you say you are not double jointed. My brother is not double jointed so he won’t listen to me that the two carotid psuedoaneuryms that he had last year could be EDS related. Both carotid arteries were stretched, elongated, and circled in a loop. He had a hyperextension incident for which he blames his pseudoaneurysms. But I believe that those arteries would have snapped instead of stretching if he didn’t have the same stretchy veins I do. He’s not hypermobile so it’s hard to understand the tie-in between us when I know I have stretchy veins. They run from pressure being applied, arching and snaking away. It’s the wildest thing to watch. I hope you’re getting the help you deserve.

I did a search for NipSnap 2016 looking for any new information regarding the NipSnap3A gene mutation my family has. We have the entire EDS syndrome of disorders, so when my search landed on your blog…I was hopeful that maybe you have heard of the NipSnap gene. It would be interesting if we could find more EDSers who have our gene mutation so that it might connect the gene to the disease.

That’s the first I’ve heard of that gene or SNP to date, sorry, so no, I don’t have anything on it for you. I’ll let you know if I hear anything about that. (Tossing on my “watch for” pile.) You may just be proving Hickam’s Dictum: Patients are entitled to as many diseases as they damn well please! (sic) I.e., it may just be true, true but unrelated, in genetic speak. I don’t know yet. Thanks for asking.

What a very excellent article! Being diagnosed with JHS in my late 40s after a lifetime of issues has me convinced they’re all on the same spectrum. My cascade of symptoms were triggered by peri-menopause and an undiagnosed parathyroid tumour that was causing muscle loss etc. I wish I had had a diagnosis a LONG time ago; might have made a lot of things better. But I have avoided roller-coasters like the plague as I loathe them; problem is, for my job, I sometimes have to go to places like Disneyland in Paris and other theme parks and people nag and cajole and pester and won’t listen that I can’t go on them for health reasons.
I’ve regained decent core muscle and replaced other lost muscle mass, now I am being assiduous about taking appropriate exercise, but the fear of injury remains. I did the splits at Tai Chi last July (2015) and my hips still hurt now. It’s the pain that is my biggest problem now; nothing touches it.
Anyway, thank you.

Ah you’re quite welcome! Glad you found the post validating – I agree, I think JHS is just one point along the whole spectrum of EDS “hypermobility”. And the course of it can vary over your lifetime – something doctors don’t seem to grok (realize) yet. (We’re not all born disabled or wheelchair bound and hypotonic, right?)

As I just mentioned in another comment elsewhere, doctors have only been told about the grossest signs of the rarest types to date yet. Sadly, it’s going to take a lot more of us pounding the drum before this will change. But the more of you that join me, the sooner it will happen!

And we always, always have to self-advocate firmly to avoid further injury. Way to stay strong.

Sorry to hear that, I hate it when that happens! (Losing a long composition.) And appreciate the thought, whatever it was. Also fwiw, I see a longer comment above by someone named “Viv”, in case that’s a different login you have? Anyway, better luck, and thanks for trying to share your thoughts!

Re: your thoughts regarding the autism spectrum and EDS.
For what it’s worth towards your personal research on this matter, I believe this zebra is on the spectrum…but most decidedly at a level that would be considered mild. My son however is an Aspie. He is a very gifted individual also burdened with a litany of EDS related comorbidities. He however is not hypermobile. For what it’s worth he definitely presents with marfan like characteristics.

I hope that sharing the above helps your research into this, what I consider very astute, correlation.

Thanks for your feedback Dawn, I appreciate the re-inforcement of my observations, though I also don’t mind people disagreeing to be sure, just so long as they’re kind about it, smile. Anwyay, I’m betting few men/boys will be seen as hypermobile for several reasons: a) they don’t have the famele pre-dominant sex hormones that lend to increased joint laxity (progesterone makes you more lax, and both it and estrogen lend to mast cell activation which can also lend to increased laxity we find). And also, higher testosterone lends to more bulky muscles, which in combo with weak ligaments becomes almost exagerrated in us. (I myself look fairly “built” for a petite female who doesn’t do any body building – I think my muscles have just over compensated while living my normal life, and who knows – I may have slightly higher testosterone than some women – we all fall on a hormone “spectrum” too IMHO.) So the boys are often not as hypermobile, though not always – I know some extremely bendy men. And all can suffer plenty, bendy or not, alas.

(This points to my REAL dream: of just plain getting doctors to listen to and BELIEVE ALL of us when we complain of things, and not dismiss anyone, just because they can’t see a clinical sign or biomarker of something, sigh.)

And, they’ve also just been told to “man up” or “suck it up” so much more than girls/women at least in the US (generally, again there are ALWAYS exceptions!), that fewer men and boys are willing to complain of much of their pain or issues until real damage is done after which they do get proper medical attention. And thanks to variations in SPD, some literally don’t feel much pain even when they are injured, where as others of us feel EVERY thing and wake at a mouse fart.

This is why I’m fighting so hard for medicine to recognize the less hypermobile patients better, whatever they want to call it, whether EDS or the new Hypermobility Spectrum Disorders, along with Dr. Jaime Bravo in Chile who shares my concern. (He has EDS, and told me he was NEVER lax. Ever. Not even as a child. And has other similar patients.) So it remains to be seen how this plays out… best of luck to you both/all.